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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1463501.	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 GRCh37: Chr1:83923008-104816539 GRCh38: Chr1:83457325-104273917	LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC126805775, LOC126805776, LOC126805777, LOC126805778, LOC126805779, LOC126805780, LOC126805781, LOC126805782, LOC126805783, LOC126805784, LOC126805785, LOC126805786, LOC126805787, LOC126805788, LOC126805789, LOC126805790, LOC126805791, LOC126805792, LOC126805793, LOC126805794, LOC126805795, LOC126805796, LOC126805797, LOC126805798, LOC126805799, LOC126805800, LOC126805801, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC128092251, LOC129388556, LOC129388557, LOC129388558, LOC129388559, LOC129388560, LOC129388561, LOC129388562, LOC129388563, LOC129388564, LOC129388565, LOC129388566, LOC129388567, LOC129388568, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847, LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC129930882, LOC129930883, LOC129930884, LOC129930885, LOC129930886, LOC129930887, LOC129930888, LOC129930889, LOC129930890, LOC129930891, LOC129930892, LOC129930893, LOC129930894, LOC129930895, LOC129930896, LOC129930897, LOC129930898, LOC129930899, LOC129930900, LOC129930901, LOC129930902, LOC129930903, LOC129930904, LOC129930905, LOC129930906, LOC129930907, LOC129930908, LOC129930909, LOC129930910, LOC129930911, LOC129930912, LOC129930913, LOC129930914, LOC129930915, LOC129930916, LOC129930917, LOC129930918, LOC129930919, LOC129930920, LOC129930921, LOC129930922, LOC129930923, LOC129930924, LOC129930925, LOC129930926, LOC129930927, LOC129930928, LOC129930929, LOC129930930, LOC129930931, LOC129930932, LOC129930933, LOC129930934, LOC129930935, LOC129930936, LOC129930937, LOC129930938, LOC129930939, LOC129930940, LOC129930941, LOC129930942, LOC129930943, LOC129930944, LOC129930945, LOC129930946, LOC129930947, LOC129930948, LOC129930949, LOC129930950, LOC129930951, LOC129930952, LOC129930953, LOC129930954, LOC129930955, LOC129930956, LOC129930957, LOC129930958, LOC129930959, LOC129930960, LOC129930961, LOC129930962, LOC129930963, LOC129930964, LOC129930965, LOC129930966, LOC129930967, LOC129930968, LOC129930969, LOC129930970, LOC129930971, LOC129930972, LOC129930973, LOC129930974, LOC129930975, LOC129930976, LOC129930977, LOC129930978, LOC129930979, LOC129930980, LOC129930981, LOC129930982, LOC129930983, LOC129930984, LOC129930985, LOC129930986, LOC129930987, LOC129930988, LOC129930989, LOC129930990, LOC129930991, LOC129930992, LOC129930993, LOC129930994, LOC129930995, LOC129930996, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132088743, LOC132088745, LOC132088747, LOC132090665, LPAR3, LRRC39, LRRC8B, LRRC8C, LRRC8C-DT, LRRC8D, LRRC8D-DT, MCOLN2, MCOLN3, MFSD14A, MIR12133, MIR137, MIR137HG, MIR2682, MIR378G, MIR4423, MIR553, MIR760, MIR7856, MTF2, ODF2L, OLFM3, PALMD, PKN2, PKN2-AS1, PLPPR4, PLPPR5, PLPPR5-AS1, PRKACB, PTBP2, RBMXL1, RNPC3, RNPC3-DT, RPAP2, RPF1, RPL5, RTCA, RTCA-AS1, RWDD3, RWDD3-DT, S1PR1, S1PR1-DT, SAMD13, SASS6, SELENOF, SETSIP, SH3GLB1, SLC30A7, SLC35A3, SLC44A3, SLC44A3-AS1, SNORA66, SNORD21, SNORD3G, SNX7, SPATA1, SSX2IP, SYDE2, TGFBR3, TLCD4, TLCD4-RWDD3, TMED5, TRC-GCA7-1, TRMT13, TRR-TCT1-1, TTLL7, TTLL7-IT1, VCAM1, ZNF326, ZNF644, ZNHIT6, ABCA4, ABCD3, AGL, ALG14, ALG14-AS1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ARHGAP29, BARHL2, BCAR3, BCAR3-AS1, BCL10, BCL10-AS1, BRDT, BTBD8, C1orf146, C1orf52, CCDC18, CCDC18-AS1, CCN1, CDC14A, CDC7, CLCA1, CLCA2, CLCA4, CLCA4-AS1, CNN3, CNN3-DT, COL11A1, COL24A1, CTBS, DBT, DDAH1, DIPK1A, DNAI3, DNASE2B, DNTTIP2, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, DR1, EPHX4, EVI5, EXTL2, F3, FNBP1L, FRRS1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GFI1, GLMN, GNG5, GPR88, GTF2B, HFM1, HS2ST1, KYAT3, LINC01140, LINC01307, LINC01349, LINC01364, LINC01461, LINC01555, LINC01650, LINC01708, LINC01709, LINC01725, LINC01760, LINC01761, LINC01763, LINC01776, LINC01787, LINC01930, LINC02607, LINC02609, LINC02787, LINC02788, LINC02790, LINC02795, LINC02801, LMO4, LOC101927560, LOC107457601, LOC110120602, LOC110120664, LOC110120716, LOC110120739, LOC110120776, LOC110120795, LOC110120959, LOC110120990, LOC110121010, LOC110121023, LOC110121031, LOC111556158, LOC112590824, LOC112590826, LOC112590827, LOC112590828, LOC113939989, LOC115801431, LOC115801432, LOC115801433, LOC115801434, LOC115801435, LOC115801436, LOC120893144, LOC120893145, LOC120893146, LOC120893147, LOC120893148, LOC121725035, LOC121725036, LOC121725037, LOC121725038, LOC121725039, LOC121725040, LOC121725041, LOC121725042, LOC122094856, LOC122094857, LOC122094858, LOC122094859, LOC122094860, LOC122094861, LOC122094862, LOC122094863, LOC122094864, LOC122094865, LOC122094866, LOC122094867, LOC122094868, LOC122094869, LOC122094870, LOC122094871, LOC122094872, LOC122094873, LOC122094874, LOC122094875, LOC122094876, LOC122094877, LOC122094878, LOC122094879, LOC122094880, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890		See cases	Pathogenic (Feb 18, 2011)	no assertion criteria provided
Select item 1460072.	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 GRCh37: Chr1:97737905-109435760 GRCh38: Chr1:97272349-108893138	AGL, AKNAD1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, CDC14A, COL11A1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, EEIG2, EXTL2, FNDC7, FRRS1, GPR88, GPSM2, HENMT1, LINC01307, LINC01349, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC111556158, LOC112577470, LOC115801437, LOC120893148, LOC120893149, LOC120893150, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LRRC39, MFSD14A, MIR137, MIR137HG, MIR2682, MIR553, MIR7852, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PRPF38B, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SASS6, SLC25A24, SLC30A7, SLC35A3, SNX7, SPATA42, STXBP3, TRMT13, VAV3, VAV3-AS1, VCAM1		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 600053.	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 GRCh37: Chr1:97876158-111213132 GRCh38: Chr1:97410602-110670510	AGL, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATXN7L2, CDC14A, CELSR2, CFAP276, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DBT, DPH5, DPH5-DT, DPYD, DPYD-AS2, EEIG2, ELAPOR1, EPS8L3, EXTL2, FNDC7, FRRS1, GNAI3, GNAT2, GPR61, GPR88, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01307, LINC01349, LINC01397, LINC01661, LINC01676, LINC01677, LINC01708, LINC01709, LINC01776, LINC01930, LOC107457601, LOC110121283, LOC110121285, LOC111556158, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC115801437, LOC115801438, LOC120893148, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC129388566, LOC129388567, LOC129388568, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LRRC39, MFSD14A, MIR137, MIR137HG, MIR197, MIR2682, MIR553, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, PALMD, PLPPR4, PLPPR5, PLPPR5-AS1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, RTCA, RTCA-AS1, S1PR1, S1PR1-DT, SARS1, SASS6, SCARNA2, SLC16A4, SLC25A24, SLC30A7, SLC35A3, SLC6A17, SLC6A17-AS1, SNX7, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TRMT13, UBL4B, VAV3, VAV3-AS1, VCAM1, WDR47		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 600074.	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 GRCh37: Chr1:102083653-112245650 GRCh38: Chr1:101618097-111703028	ELAPOR1, EPS8L3, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNA3, KCNC4, KCNC4-DT, LAMTOR5, LAMTOR5-AS1, LINC01160, LINC01397, LINC01661, LINC01676, LINC01677, LINC01709, LOC107457601, LOC107985184, LOC110121283, LOC110121285, LOC112577470, LOC112577471, LOC112577473, LOC112577475, LOC112577476, LOC115801437, LOC115801438, LOC120893149, LOC120893150, LOC120893151, LOC120893152, LOC121725043, LOC121725044, LOC122094891, LOC122094892, LOC122094893, LOC122094894, LOC122094895, LOC122094896, LOC122094897, LOC126805812, LOC126805813, LOC126805814, LOC126805815, LOC126805816, LOC126805817, LOC126805818, LOC126805819, LOC126805820, LOC126805821, LOC126805822, LOC126805823, LOC126805824, LOC126805825, LOC126805826, LOC126805827, LOC126805828, LOC126805829, LOC129388569, LOC129388570, LOC129388571, LOC129388572, LOC129388573, LOC129388574, LOC129388575, LOC129388576, LOC129388577, LOC129388578, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC129931063, LOC129931064, LOC129931065, LOC129931066, LOC129931067, LOC129931068, LOC129931069, LOC129931070, LOC129931071, LOC129931072, LOC129931073, LOC129931074, LOC129931075, LOC129931076, LOC129931077, LOC129931078, LOC129931079, LOC129931080, LOC129931081, LOC129931082, LOC129931083, LOC129931084, LOC129931085, LOC129931086, LOC129931087, LOC129931088, LOC129931089, LOC129931090, LOC129931091, LOC129931092, LOC129931093, LOC129931094, LOC129931095, LOC129931096, LOC129931097, LOC129931098, LOC129931099, LOC129931100, LOC129931101, LOC129931102, LOC129931103, LOC129931104, LOC129931105, LOC129931106, LOC129931107, LOC129931108, LOC129931109, LOC129931110, LOC129931111, LOC129931112, LOC129931113, LOC129931114, LOC129931115, LOC129931116, LOC129931117, LOC129931118, LOC129931119, LOC129931120, LOC129931121, LOC129931122, LOC129931123, LOC129931124, LOC129931125, LOC129931126, LOC129931127, LOC129931128, LOC129931129, LOC129931130, LOC129931131, LOC129931132, LOC129931133, LOC129931134, LOC129931135, LOC129931136, LOC129931137, LOC129931138, LOC129931139, LOC129931140, LOC129931141, LOC129931142, LOC129931143, LOC129931144, LOC129931145, LOC129931146, LOC129931147, LOC129931148, LOC129931149, LOC129931150, LOC129931151, LOC129931152, LOC129931153, LOC129931154, LOC129931155, LOC129931156, LOC129931157, LOC129931158, LOC129931159, LOC129931160, LOC129931161, LOC129931162, LOC129931163, LOC129931164, LOC129931165, LOC129931166, LOC129931167, LOC129931168, LOC129931169, LOC129931170, LOC129931171, LOC129931172, LOC129931173, LOC129931174, LOC129931175, LOC129931176, LOC129931177, LOC129931178, LOC129931179, LOC129931180, LOC129931181, LOC129931182, LOC129931183, LOC129931184, LOC129931185, LOC129931186, LOC129931187, LOC129931188, LOC129931189, LOC129931190, LOC129931191, LRIF1, MIR197, MIR7852, MYBPHL, NBPF4, NBPF6, NTNG1, OLFM3, OVGP1, PRMT6, PROK1, PRPF38B, PSMA5, PSRC1, RAP1A, RBM15, RBM15-AS1, RNPC3, RNPC3-DT, SARS1, SCARNA2, SLC16A4, SLC25A24, SLC6A17, SLC6A17-AS1, SORT1, SPATA42, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, TMIGD3, UBL4B, VAV3, VAV3-AS1, WDR47, WDR77, ADORA3, AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ATP5PB, ATXN7L2, C1orf162, CD53, CELSR2, CEPT1, CFAP276, CHI3L2, CHIA, CIMAP3, CLCC1, COL11A1, CSF1, CYB561D1, CYMP-AS1, DENND2D, DRAM2, EEIG2		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 8764985.	NM_001854.4(COL11A1):c.*1535A>C GRCh37: Chr1:103342040 GRCh38: Chr1:102876484	COL11A1		Stickler syndrome type 2, Fibrochondrogenesis 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 2914736.	NM_001854.4(COL11A1):c.*1488G>C GRCh37: Chr1:103342087 GRCh38: Chr1:102876531	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8764997.	NM_001854.4(COL11A1):c.*1322G>A GRCh37: Chr1:103342253 GRCh38: Chr1:102876697	COL11A1		not provided, Stickler syndrome type 2, Fibrochondrogenesis 1	Benign/Likely benign (Jun 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8765008.	NM_001854.4(COL11A1):c.*1301T>C GRCh37: Chr1:103342274 GRCh38: Chr1:102876718	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 2914749.	NM_001854.4(COL11A1):c.*1239T>C GRCh37: Chr1:103342336 GRCh38: Chr1:102876780	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87360610.	NM_001854.4(COL11A1):c.*1230G>A GRCh37: Chr1:103342345 GRCh38: Chr1:102876789	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29147511.	NM_001854.4(COL11A1):c.*1227T>A GRCh37: Chr1:103342348 GRCh38: Chr1:102876792	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 29147612.	NM_001854.4(COL11A1):c.*1203G>A GRCh37: Chr1:103342372 GRCh38: Chr1:102876816	COL11A1		not provided, Stickler syndrome type 2, Fibrochondrogenesis 1	Conflicting interpretations of pathogenicity (Apr 1, 2023)	criteria provided, conflicting interpretations
Select item 29147713.	NM_001854.4(COL11A1):c.*1183A>G GRCh37: Chr1:103342392 GRCh38: Chr1:102876836	COL11A1		not provided, Fibrochondrogenesis 1, Stickler syndrome type 2	Benign (May 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29147814.	NM_001854.4(COL11A1):c.*1105C>T GRCh37: Chr1:103342470 GRCh38: Chr1:102876914	COL11A1		not provided, Fibrochondrogenesis 1, Stickler syndrome type 2	Benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29147915.	NM_001854.4(COL11A1):c.*1091A>T GRCh37: Chr1:103342484 GRCh38: Chr1:102876928	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87460716.	NM_001854.4(COL11A1):c.*1082G>A GRCh37: Chr1:103342493 GRCh38: Chr1:102876937	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 29148017.	NM_001854.4(COL11A1):c.*953G>C GRCh37: Chr1:103342622 GRCh38: Chr1:102877066	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87552918.	NM_001854.4(COL11A1):c.*901T>C GRCh37: Chr1:103342674 GRCh38: Chr1:102877118	COL11A1		Stickler syndrome type 2, Fibrochondrogenesis 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87553019.	NM_001854.4(COL11A1):c.*876G>A GRCh37: Chr1:103342699 GRCh38: Chr1:102877143	COL11A1		Stickler syndrome type 2, Fibrochondrogenesis 1	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 29148120.	NM_001854.4(COL11A1):c.*809C>T GRCh37: Chr1:103342766 GRCh38: Chr1:102877210	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 29148221.	NM_001854.4(COL11A1):c.*715A>G GRCh37: Chr1:103342860 GRCh38: Chr1:102877304	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 132153922.	NM_001854.4(COL11A1):c.*704T>C GRCh37: Chr1:103342871 GRCh38: Chr1:102877315	COL11A1		not provided	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 29148323.	NM_001854.4(COL11A1):c.*687C>T GRCh37: Chr1:103342888 GRCh38: Chr1:102877332	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29148424.	NM_001854.4(COL11A1):c.*632G>A GRCh37: Chr1:103342943 GRCh38: Chr1:102877387	COL11A1		not provided, Fibrochondrogenesis 1, Stickler syndrome type 2	Benign/Likely benign (May 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29148525.	NM_001854.4(COL11A1):c.*628dup GRCh37: Chr1:103342946-103342947 GRCh38: Chr1:102877390-102877391	COL11A1		Stickler Syndrome, Dominant, Fibrochondrogenesis 1, Marshall syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 29148626.	NM_001854.4(COL11A1):c.*579A>G GRCh37: Chr1:103342996 GRCh38: Chr1:102877440	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87366227.	NM_001854.4(COL11A1):c.*535A>C GRCh37: Chr1:103343040 GRCh38: Chr1:102877484	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29148728.	NM_001854.4(COL11A1):c.*508G>A GRCh37: Chr1:103343067 GRCh38: Chr1:102877511	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87366329.	NM_001854.4(COL11A1):c.*486T>C GRCh37: Chr1:103343089 GRCh38: Chr1:102877533	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87366430.	NM_001854.4(COL11A1):c.*426A>G GRCh37: Chr1:103343149 GRCh38: Chr1:102877593	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29148831.	NM_001854.4(COL11A1):c.*301A>G GRCh37: Chr1:103343274 GRCh38: Chr1:102877718	COL11A1		Stickler syndrome type 2, not provided, Fibrochondrogenesis 1	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29148932.	NM_001854.4(COL11A1):c.*240A>G GRCh37: Chr1:103343335 GRCh38: Chr1:102877779	COL11A1		Stickler syndrome type 2, Fibrochondrogenesis 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87464833.	NM_001854.4(COL11A1):c.*184A>G GRCh37: Chr1:103343391 GRCh38: Chr1:102877835	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29149034.	NM_001854.4(COL11A1):c.*105C>T GRCh37: Chr1:103343470 GRCh38: Chr1:102877914	COL11A1		Stickler syndrome type 2, Fibrochondrogenesis 1, not provided	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 87559035.	NM_001854.4(COL11A1):c.*40C>A GRCh37: Chr1:103343535 GRCh38: Chr1:102877979	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29149136.	NM_001854.4(COL11A1):c.*17A>G GRCh37: Chr1:103343558 GRCh38: Chr1:102878002	COL11A1		not specified, Fibrochondrogenesis 1, not provided, Stickler syndrome type 2	Conflicting interpretations of pathogenicity (Sep 19, 2023)	criteria provided, conflicting interpretations
Select item 119600737.	NM_001854.4(COL11A1):c.*9C>G GRCh37: Chr1:103343566 GRCh38: Chr1:102878010	COL11A1		not provided, Connective tissue disorder	Conflicting interpretations of pathogenicity (May 3, 2021)	criteria provided, conflicting interpretations
Select item 199391138.	NM_001854.4(COL11A1):c.5420A>G (p.Ter1807=) GRCh37: Chr1:103343576 GRCh38: Chr1:102878020	COL11A1		not provided	Uncertain significance (Oct 12, 2022)	criteria provided, single submitter
Select item 140105339.	NM_001854.4(COL11A1):c.5414T>A (p.Leu1805His) GRCh37: Chr1:103343582 GRCh38: Chr1:102878026	COL11A1	L1817H, L1805H, L1689H, L1766H	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 244461140.	NM_001854.4(COL11A1):c.5412T>A (p.Phe1804Leu) GRCh37: Chr1:103343584 GRCh38: Chr1:102878028	COL11A1	F1688L, F1765L, F1804L, F1816L	not provided	Uncertain significance (Mar 16, 2023)	criteria provided, single submitter
Select item 147379441.	NM_001854.4(COL11A1):c.5410T>C (p.Phe1804Leu) GRCh37: Chr1:103343586 GRCh38: Chr1:102878030	COL11A1	F1816L, F1804L, F1765L, F1688L	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 87559142.	NM_001854.4(COL11A1):c.5402C>T (p.Pro1801Leu) GRCh37: Chr1:103343594 GRCh38: Chr1:102878038	COL11A1	P1801L, P1762L, P1813L, P1685L	Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 262344143.	NM_001854.4(COL11A1):c.5401C>G (p.Pro1801Ala) GRCh37: Chr1:103343595 GRCh38: Chr1:102878039	COL11A1	P1762A, P1801A, P1685A, P1813A	Inborn genetic diseases	Uncertain significance (Sep 13, 2023)	criteria provided, single submitter
Select item 187885544.	NM_001854.4(COL11A1):c.5398G>T (p.Gly1800Cys) GRCh37: Chr1:103343598 GRCh38: Chr1:102878042	COL11A1	G1684C, G1761C, G1800C, G1812C	not provided	Uncertain significance (Sep 14, 2023)	criteria provided, single submitter
Select item 148823845.	NM_001854.4(COL11A1):c.5398G>A (p.Gly1800Ser) GRCh37: Chr1:103343598 GRCh38: Chr1:102878042	COL11A1	G1761S, G1812S, G1684S, G1800S	not provided	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 254742146.	NM_001854.4(COL11A1):c.5390T>G (p.Phe1797Cys) GRCh37: Chr1:103343606 GRCh38: Chr1:102878050	COL11A1	F1797C, F1681C, F1809C, F1758C	Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, single submitter
Select item 104747447.	NM_001854.4(COL11A1):c.5386G>A (p.Gly1796Arg) GRCh37: Chr1:103343610 GRCh38: Chr1:102878054	COL11A1	G1757R, G1796R, G1680R, G1808R	Intervertebral disc disorder, Stickler syndrome type 2, Hearing loss, autosomal dominant 37, Marshall syndrome, Fibrochondrogenesis 1, not provided	Uncertain significance (Nov 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51157448.	NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=) GRCh37: Chr1:103343611 GRCh38: Chr1:102878055	COL11A1		not specified, not provided	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149140049.	NM_001854.4(COL11A1):c.5372_5373delinsGC (p.Gln1791Arg) GRCh37: Chr1:103343623-103343624 GRCh38: Chr1:102878067-102878068	COL11A1	Q1752R, Q1803R, Q1791R, Q1675R	not provided	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 151589650.	NM_001854.4(COL11A1):c.5372A>G (p.Gln1791Arg) GRCh37: Chr1:103343624 GRCh38: Chr1:102878068	COL11A1	Q1752R, Q1803R, Q1791R, Q1675R	COL11A1-related condition, not provided	Conflicting interpretations of pathogenicity (Sep 20, 2023)	criteria provided, conflicting interpretations
Select item 106503251.	NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn) GRCh37: Chr1:103343637 GRCh38: Chr1:102878081	COL11A1	D1671N, D1748N, D1787N, D1799N	Hearing impairment, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 263090952.	NM_001854.4(COL11A1):c.5357dup (p.Asn1786fs) GRCh37: Chr1:103343638-103343639 GRCh38: Chr1:102878082-102878083	COL11A1	N1670fs, N1747fs, N1786fs, N1798fs	COL11A1-related condition	Uncertain significance (Sep 14, 2023)	criteria provided, single submitter
Select item 204693553.	NM_001854.4(COL11A1):c.5355C>A (p.Ile1785=) GRCh37: Chr1:103343641 GRCh38: Chr1:102878085	COL11A1		not provided	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 201727154.	NM_001854.4(COL11A1):c.5343T>G (p.Val1781=) GRCh37: Chr1:103343653 GRCh38: Chr1:102878097	COL11A1		not provided	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 199399455.	NM_001854.4(COL11A1):c.5331A>C (p.Gln1777His) GRCh37: Chr1:103343665 GRCh38: Chr1:102878109	COL11A1	Q1738H, Q1777H, Q1661H, Q1789H	not provided	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 193926956.	NM_001854.4(COL11A1):c.5329C>G (p.Gln1777Glu) GRCh37: Chr1:103343667 GRCh38: Chr1:102878111	COL11A1	Q1738E, Q1789E, Q1661E, Q1777E	not provided	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 51418757.	NM_001854.4(COL11A1):c.5325T>C (p.Ile1775=) GRCh37: Chr1:103343671 GRCh38: Chr1:102878115	COL11A1		not provided, Fibrochondrogenesis 1, Stickler syndrome type 2	Benign/Likely benign (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134615858.	NM_001854.4(COL11A1):c.5317C>T (p.Pro1773Ser) GRCh37: Chr1:103343679 GRCh38: Chr1:102878123	COL11A1	P1773S, P1657S, P1734S, P1785S	not provided	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 105610059.	NM_001854.4(COL11A1):c.5317C>A (p.Pro1773Thr) GRCh37: Chr1:103343679 GRCh38: Chr1:102878123	COL11A1	P1657T, P1734T, P1773T, P1785T	not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 210454960.	NM_001854.4(COL11A1):c.5312A>G (p.Asn1771Ser) GRCh37: Chr1:103343684 GRCh38: Chr1:102878128	COL11A1	N1655S, N1732S, N1771S, N1783S	not provided	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 109165461.	NM_001854.4(COL11A1):c.5304T>C (p.Ile1768=) GRCh37: Chr1:103343692 GRCh38: Chr1:102878136	COL11A1		not provided	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 141454262.	NM_001854.4(COL11A1):c.5296A>T (p.Thr1766Ser) GRCh37: Chr1:103343700 GRCh38: Chr1:102878144	COL11A1	T1778S, T1650S, T1727S, T1766S	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 130622663.	NM_001854.4(COL11A1):c.5294del (p.Lys1765fs) GRCh37: Chr1:103343702 GRCh38: Chr1:102878146	COL11A1	K1649fs, K1726fs, K1765fs, K1777fs	not provided	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 250590564.	NM_001854.4(COL11A1):c.5292A>C (p.Glu1764Asp) GRCh37: Chr1:103343704 GRCh38: Chr1:102878148	COL11A1	E1648D, E1725D, E1764D, E1776D	not provided	Uncertain significance (Dec 14, 2022)	criteria provided, single submitter
Select item 198100765.	NM_001854.4(COL11A1):c.5292A>G (p.Glu1764=) GRCh37: Chr1:103343704 GRCh38: Chr1:102878148	COL11A1		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 191777466.	NM_001854.4(COL11A1):c.5291A>G (p.Glu1764Gly) GRCh37: Chr1:103343705 GRCh38: Chr1:102878149	COL11A1	E1776G, E1648G, E1725G, E1764G	not provided	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 102938667.	NM_001854.4(COL11A1):c.5288A>G (p.Tyr1763Cys) GRCh37: Chr1:103343708 GRCh38: Chr1:102878152	COL11A1	Y1724C, Y1763C, Y1775C, Y1647C	not provided, Fibrochondrogenesis 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220974868.	NM_001854.4(COL11A1):c.5284G>A (p.Gly1762Ser) GRCh37: Chr1:103343712 GRCh38: Chr1:102878156	COL11A1	G1646S, G1723S, G1762S, G1774S	Inborn genetic diseases	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 172211269.	NM_001854.4(COL11A1):c.5280A>T (p.Arg1760Ser) GRCh37: Chr1:103343716 GRCh38: Chr1:102878160	COL11A1	R1644S, R1721S, R1760S, R1772S	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 161596670.	NM_001854.4(COL11A1):c.5277C>A (p.Ser1759=) GRCh37: Chr1:103343719 GRCh38: Chr1:102878163	COL11A1		not provided	Likely benign (Sep 18, 2021)	criteria provided, single submitter
Select item 87658571.	NM_001854.4(COL11A1):c.5275-9A>C GRCh37: Chr1:103343730 GRCh38: Chr1:102878174	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87658672.	NM_001854.4(COL11A1):c.5275-15T>C GRCh37: Chr1:103343736 GRCh38: Chr1:102878180	COL11A1		Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 118916373.	NM_001854.4(COL11A1):c.5275-178A>C GRCh37: Chr1:103343899 GRCh38: Chr1:102878343	COL11A1		not provided	Likely benign (Jul 15, 2018)	criteria provided, single submitter
Select item 120298174.	NM_001854.4(COL11A1):c.5275-295A>T GRCh37: Chr1:103344016 GRCh38: Chr1:102878460	COL11A1		not provided	Likely benign (Aug 13, 2019)	criteria provided, single submitter
Select item 126389975.	NM_001854.4(COL11A1):c.5274+261A>G GRCh37: Chr1:103344978 GRCh38: Chr1:102879422	COL11A1, LOC126805814		not provided	Benign (Aug 10, 2018)	criteria provided, single submitter
Select item 122900976.	NM_001854.4(COL11A1):c.5274+97C>T GRCh37: Chr1:103345142 GRCh38: Chr1:102879586	COL11A1, LOC126805814		not provided	Benign (Jul 7, 2018)	criteria provided, single submitter
Select item 157197577.	NM_001854.4(COL11A1):c.5274+16G>C GRCh37: Chr1:103345223 GRCh38: Chr1:102879667	COL11A1, LOC126805814		not provided	Likely benign (Jul 28, 2021)	criteria provided, single submitter
Select item 218045678.	NM_001854.4(COL11A1):c.5274+7A>G GRCh37: Chr1:103345232 GRCh38: Chr1:102879676	COL11A1, LOC126805814		not provided	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 106508779.	NM_001854.4(COL11A1):c.5274+4A>C GRCh37: Chr1:103345235 GRCh38: Chr1:102879679	COL11A1, LOC126805814		Hearing impairment	Uncertain significance (Apr 12, 2021)	criteria provided, single submitter
Select item 130346080.	NM_001854.4(COL11A1):c.5274G>A (p.Ala1758=) GRCh37: Chr1:103345239 GRCh38: Chr1:102879683	COL11A1, LOC126805814		not provided	Uncertain significance (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 254745781.	NM_001854.4(COL11A1):c.5273C>A (p.Ala1758Glu) GRCh37: Chr1:103345240 GRCh38: Chr1:102879684	COL11A1, LOC126805814	A1719E, A1642E, A1758E, A1770E	Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, single submitter
Select item 28475082.	NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) GRCh37: Chr1:103345240 GRCh38: Chr1:102879684	COL11A1, LOC126805814	A1770V, A1758V, A1642V, A1719V	not provided, Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Nov 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 139862483.	NM_001854.4(COL11A1):c.5261A>G (p.Tyr1754Cys) GRCh37: Chr1:103345252 GRCh38: Chr1:102879696	COL11A1, LOC126805814	Y1715C, Y1766C, Y1754C, Y1638C	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 147049584.	NM_001854.4(COL11A1):c.5258T>A (p.Leu1753Gln) GRCh37: Chr1:103345255 GRCh38: Chr1:102879699	COL11A1, LOC126805814	L1753Q, L1714Q, L1637Q, L1765Q	not provided	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 212298885.	NM_001854.4(COL11A1):c.5250C>T (p.Ile1750=) GRCh37: Chr1:103345263 GRCh38: Chr1:102879707	COL11A1, LOC126805814		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 135439486.	NM_001854.4(COL11A1):c.5249T>C (p.Ile1750Thr) GRCh37: Chr1:103345264 GRCh38: Chr1:102879708	COL11A1, LOC126805814	I1634T, I1711T, I1750T, I1762T	not provided	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 205895687.	NM_001854.4(COL11A1):c.5247T>C (p.Phe1749=) GRCh37: Chr1:103345266 GRCh38: Chr1:102879710	COL11A1, LOC126805814		not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 139040688.	NM_001854.4(COL11A1):c.5243C>A (p.Pro1748His) GRCh37: Chr1:103345270 GRCh38: Chr1:102879714	COL11A1, LOC126805814	P1748H, P1760H, P1632H, P1709H	not provided	Uncertain significance (Oct 31, 2021)	criteria provided, single submitter
Select item 149096389.	NM_001854.4(COL11A1):c.5238T>G (p.Asn1746Lys) GRCh37: Chr1:103345275 GRCh38: Chr1:102879719	COL11A1, LOC126805814	N1746K, N1630K, N1758K, N1707K	not provided	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 150876690.	NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys) GRCh37: Chr1:103345282 GRCh38: Chr1:102879726	COL11A1, LOC126805814	Y1744C, Y1756C, Y1628C, Y1705C	not provided	Benign (Feb 24, 2022)	criteria provided, single submitter
Select item 87658791.	NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp) GRCh37: Chr1:103345290 GRCh38: Chr1:102879734	COL11A1, LOC126805814	E1702D, E1625D, E1741D, E1753D	Fibrochondrogenesis 1, Stickler syndrome type 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 211622692.	NM_001854.4(COL11A1):c.5222A>C (p.Glu1741Ala) GRCh37: Chr1:103345291 GRCh38: Chr1:102879735	COL11A1, LOC126805814	E1702A, E1753A, E1741A, E1625A	not provided	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 209757893.	NM_001854.4(COL11A1):c.5221G>A (p.Glu1741Lys) GRCh37: Chr1:103345292 GRCh38: Chr1:102879736	COL11A1, LOC126805814	E1625K, E1702K, E1741K, E1753K	not provided	Benign (Feb 14, 2022)	criteria provided, single submitter
Select item 152493794.	NM_001854.4(COL11A1):c.5220G>C (p.Glu1740Asp) GRCh37: Chr1:103345293 GRCh38: Chr1:102879737	COL11A1, LOC126805814	E1624D, E1752D, E1701D, E1740D	not provided	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 84427895.	NM_001854.4(COL11A1):c.5218G>C (p.Glu1740Gln) GRCh37: Chr1:103345295 GRCh38: Chr1:102879739	COL11A1, LOC126805814	E1701Q, E1624Q, E1740Q, E1752Q	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 19836096.	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) GRCh37: Chr1:103345315 GRCh38: Chr1:102879759	COL11A1, LOC126805814	R1745H, R1733H, R1694H, R1617H	Connective tissue disorder, not provided, Fibrochondrogenesis 1, Stickler syndrome type 2, Marshall syndrome	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 140405597.	NM_001854.4(COL11A1):c.5197C>T (p.Arg1733Cys) GRCh37: Chr1:103345316 GRCh38: Chr1:102879760	COL11A1, LOC126805814	R1617C, R1694C, R1733C, R1745C	not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 194326898.	NM_001854.4(COL11A1):c.5191G>T (p.Ala1731Ser) GRCh37: Chr1:103345322 GRCh38: Chr1:102879766	COL11A1, LOC126805814	A1743S, A1615S, A1692S, A1731S	not provided	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 198452499.	NM_001854.4(COL11A1):c.5187C>T (p.Asp1729=) GRCh37: Chr1:103345326 GRCh38: Chr1:102879770	COL11A1, LOC126805814		not provided	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 2042234100.	NM_001854.4(COL11A1):c.5186A>G (p.Asp1729Gly) GRCh37: Chr1:103345327 GRCh38: Chr1:102879771	COL11A1, LOC126805814	D1613G, D1741G, D1690G, D1729G	not provided	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter

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